Marco Seri

发表

H3M2: detection of runs of homozygosity from whole-exome sequencing data

Alberto Magi, Lorenzo Tattini, Flavia Palombo, 2014, Bioinform..

ANKRD26-related thrombocytopenia and myeloid malignancies.

Paola Giordano, Marco Seri, Anna Savoia, 2013, Blood.

ACTN1-related thrombocytopenia: identification of novel families for phenotypic characterization.

Marco Seri, Tommaso Pippucci, Anna Savoia, 2015, Blood.

A novel pedigree with familial cortical myoclonic tremor and epilepsy (FCMTE): Clinical characterization, refinement of the FCMTE2 locus, and confirmation of a founder haplotype

Marco Seri, Tommaso Pippucci, Paolo Tinuper, 2013, Epilepsia.

Genotype-phenotype correlation for congenital heart disease in Down syndrome through analysis of partial trisomy 21 cases.

Marco Seri, Lorenza Vitale, Pierluigi Strippoli, 2017, Genomics.

A Novel Null Homozygous Mutation Confirms CACNA2D2 as a Gene Mutated in Epileptic Encephalopathy

Flavia Palombo, Marco Seri, Tommaso Pippucci, 2013, PloS one.

Analysis of clinically relevant single-nucleotide polymorphisms by use of microelectronic array technology.

Marco Seri, Roberto Ravazzolo, Alessandro Ferraris, 2002, Clinical chemistry.

An integrated route to identifying new pathogenesis-based therapeutic approaches for trisomy 21 (Down Syndrome) following the thought of Jérôme Lejeune

Marco Seri, Lorenza Vitale, Pierluigi Strippoli, 2013 .

SCA28, a novel form of autosomal dominant cerebellar ataxia on chromosome 18p11.22-q11.2.

Marco Seri, Franco Taroni, Caterina Mariotti, 2006, Brain : a journal of neurology.